ClinVar Miner

List of variants in gene SGCD reported as likely benign for Autosomal recessive limb-girdle muscular dystrophy type 2F

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Gene type:
ClinVar version:
Total variants: 251
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.*3962G>A rs56182215 0.08205
NM_000337.6(SGCD):c.*3687A>G rs72803046 0.08194
NM_000337.6(SGCD):c.*7300C>A rs72803048 0.06455
NC_000005.10:g.156326973A>T rs7725121 0.06375
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_000337.6(SGCD):c.*7596A>G rs80115276 0.02244
NM_000337.6(SGCD):c.*3898C>T rs74717343 0.01308
NC_000005.10:g.156327097A>G rs77808502 0.00918
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_000337.6(SGCD):c.699+71G>A rs187204080 0.00245
NM_000337.6(SGCD):c.*2A>C rs200757725 0.00241
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_000337.6(SGCD):c.543T>G (p.Pro181=) rs200451694 0.00041
NM_000337.6(SGCD):c.510G>A (p.Glu170=) rs368838376 0.00029
NM_000337.6(SGCD):c.193-17T>G rs201079829 0.00027
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_000337.6(SGCD):c.-404G>A rs192662989 0.00016
NM_000337.6(SGCD):c.817C>T (p.Leu273=) rs375029639 0.00016
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_000337.6(SGCD):c.3+11C>T rs374790317 0.00010
NM_000337.6(SGCD):c.717G>A (p.Ala239=) rs145430692 0.00009
NM_000337.6(SGCD):c.402T>C (p.Ala134=) rs190935424 0.00007
NM_000337.6(SGCD):c.295-20C>A rs144250417 0.00006
NM_000337.6(SGCD):c.69C>T (p.Tyr23=) rs397517923 0.00006
NM_000337.6(SGCD):c.792C>T (p.Cys264=) rs367616773 0.00006
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000337.6(SGCD):c.295-10C>G rs1334538970 0.00004
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000337.6(SGCD):c.4-12C>T rs727504580 0.00004
NM_000337.6(SGCD):c.756G>A (p.Thr252=) rs756467431 0.00004
NM_000337.6(SGCD):c.294+15A>C rs377470284 0.00003
NM_000337.6(SGCD):c.783C>T (p.Phe261=) rs768741617 0.00003
NM_000337.6(SGCD):c.798C>T (p.Cys266=) rs371850230 0.00003
NM_000337.6(SGCD):c.193-7A>G rs747018859 0.00002
NM_000337.6(SGCD):c.630C>T (p.Ile210=) rs763051644 0.00002
NM_000337.6(SGCD):c.771G>A (p.Arg257=) rs774579663 0.00002
NM_000337.6(SGCD):c.786G>A (p.Glu262=) rs1197695649 0.00002
NM_000337.6(SGCD):c.153C>T (p.Ala51=) rs1021837057 0.00001
NM_000337.6(SGCD):c.193-12G>T rs727503421 0.00001
NM_000337.6(SGCD):c.193-8T>C rs775726683 0.00001
NM_000337.6(SGCD):c.193-9C>G rs1479077458 0.00001
NM_000337.6(SGCD):c.237A>G (p.Leu79=) rs759198194 0.00001
NM_000337.6(SGCD):c.249T>G (p.Ser83=) rs1348759871 0.00001
NM_000337.6(SGCD):c.258A>G (p.Leu86=) rs755568661 0.00001
NM_000337.6(SGCD):c.270C>T (p.Tyr90=) rs749273088 0.00001
NM_000337.6(SGCD):c.288C>A (p.Ser96=) rs746179885 0.00001
NM_000337.6(SGCD):c.294+18G>A rs774199047 0.00001
NM_000337.6(SGCD):c.295-4G>T rs1397739383 0.00001
NM_000337.6(SGCD):c.382+11G>A rs1760629317 0.00001
NM_000337.6(SGCD):c.387A>G (p.Pro129=) rs80066854 0.00001
NM_000337.6(SGCD):c.4-13T>A rs761148697 0.00001
NM_000337.6(SGCD):c.4-7A>G rs1161530606 0.00001
NM_000337.6(SGCD):c.447C>G (p.Leu149=) rs1257378159 0.00001
NM_000337.6(SGCD):c.45T>A (p.Pro15=) rs727505092 0.00001
NM_000337.6(SGCD):c.503-11T>G rs372967785 0.00001
NM_000337.6(SGCD):c.54G>A (p.Val18=) rs756970013 0.00001
NM_000337.6(SGCD):c.576-20C>T rs764323398 0.00001
NM_000337.6(SGCD):c.577T>C (p.Leu193=) rs776813977 0.00001
NM_000337.6(SGCD):c.642T>C (p.Ala214=) rs778303434 0.00001
NM_000337.6(SGCD):c.768G>A (p.Thr256=) rs376141942 0.00001
NM_000337.6(SGCD):c.99A>T (p.Arg33=) rs745487169 0.00001
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.105G>T (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.108T>C (p.Tyr36=)
NM_000337.6(SGCD):c.118C>T (p.Leu40=)
NM_000337.6(SGCD):c.147C>T (p.Asn49=) rs2127716692
NM_000337.6(SGCD):c.159C>T (p.Thr53=)
NM_000337.6(SGCD):c.15G>A (p.Glu5=)
NM_000337.6(SGCD):c.171C>G (p.Leu57=)
NM_000337.6(SGCD):c.177C>T (p.Val59=) rs727505265
NM_000337.6(SGCD):c.186C>T (p.Phe62=)
NM_000337.6(SGCD):c.189A>G (p.Thr63=)
NM_000337.6(SGCD):c.192+11C>T
NM_000337.6(SGCD):c.192+12C>T
NM_000337.6(SGCD):c.192+13A>G
NM_000337.6(SGCD):c.192+14T>A
NM_000337.6(SGCD):c.192+14T>C
NM_000337.6(SGCD):c.192+18G>T
NM_000337.6(SGCD):c.192+19G>A
NM_000337.6(SGCD):c.192+20T>G
NM_000337.6(SGCD):c.193-12G>A
NM_000337.6(SGCD):c.193-12_193-10del
NM_000337.6(SGCD):c.193-16C>G
NM_000337.6(SGCD):c.193-18C>G
NM_000337.6(SGCD):c.193-18C>T
NM_000337.6(SGCD):c.193-20A>G
NM_000337.6(SGCD):c.193-20A>T rs778298187
NM_000337.6(SGCD):c.193-7_193-4dup rs2127875278
NM_000337.6(SGCD):c.195T>C (p.Asp65=)
NM_000337.6(SGCD):c.204A>G (p.Gly68=)
NM_000337.6(SGCD):c.219A>G (p.Thr73=)
NM_000337.6(SGCD):c.226G>T (p.Gly76Cys) rs376659221
NM_000337.6(SGCD):c.231A>G (p.Leu77=)
NM_000337.6(SGCD):c.234G>A (p.Lys78=)
NM_000337.6(SGCD):c.240A>G (p.Glu80=)
NM_000337.6(SGCD):c.243A>G (p.Gly81=)
NM_000337.6(SGCD):c.255C>T (p.Phe85=)
NM_000337.6(SGCD):c.267C>G (p.Leu89=)
NM_000337.6(SGCD):c.282C>A (p.Ile94=)
NM_000337.6(SGCD):c.288C>T (p.Ser96=)
NM_000337.6(SGCD):c.289C>A (p.Arg97=)
NM_000337.6(SGCD):c.294+16G>C
NM_000337.6(SGCD):c.294+20A>G rs1756811866
NM_000337.6(SGCD):c.295-14T>C
NM_000337.6(SGCD):c.295-15A>G
NM_000337.6(SGCD):c.295-15_295-13del
NM_000337.6(SGCD):c.295-18C>T
NM_000337.6(SGCD):c.295-20C>G rs144250417
NM_000337.6(SGCD):c.295-20_295-17del
NM_000337.6(SGCD):c.3+11C>A
NM_000337.6(SGCD):c.3+13C>G
NM_000337.6(SGCD):c.3+13C>T
NM_000337.6(SGCD):c.3+14G>C rs538229806
NM_000337.6(SGCD):c.3+14G>T rs538229806
NM_000337.6(SGCD):c.3+15G>A
NM_000337.6(SGCD):c.3+16del
NM_000337.6(SGCD):c.3+17A>G
NM_000337.6(SGCD):c.3+19C>A
NM_000337.6(SGCD):c.3+19C>G rs182715924
NM_000337.6(SGCD):c.3+19C>T rs182715924
NM_000337.6(SGCD):c.3+20G>T
NM_000337.6(SGCD):c.3+7A>G rs1561622931
NM_000337.6(SGCD):c.300T>C (p.Asn100=)
NM_000337.6(SGCD):c.304C>T (p.Leu102=) rs868328526
NM_000337.6(SGCD):c.333A>C (p.Thr111=) rs886042290
NM_000337.6(SGCD):c.33G>A (p.Arg11=)
NM_000337.6(SGCD):c.351C>T (p.Asp117=)
NM_000337.6(SGCD):c.357T>C (p.Thr119=) rs886044132
NM_000337.6(SGCD):c.357T>G (p.Thr119=)
NM_000337.6(SGCD):c.363G>T (p.Val121=) rs1327634775
NM_000337.6(SGCD):c.364C>T (p.Leu122=)
NM_000337.6(SGCD):c.372G>A (p.Gln124=)
NM_000337.6(SGCD):c.382+12G>A
NM_000337.6(SGCD):c.382+12del
NM_000337.6(SGCD):c.382+16del
NM_000337.6(SGCD):c.383-10T>C
NM_000337.6(SGCD):c.383-11A>C
NM_000337.6(SGCD):c.383-11A>G
NM_000337.6(SGCD):c.383-11A>T rs727504584
NM_000337.6(SGCD):c.383-11_383-4dup
NM_000337.6(SGCD):c.383-12_383-11insCCTCTCT
NM_000337.6(SGCD):c.383-15C>A
NM_000337.6(SGCD):c.383-15C>G
NM_000337.6(SGCD):c.383-19A>C
NM_000337.6(SGCD):c.383-19A>G
NM_000337.6(SGCD):c.383-19_383-16del
NM_000337.6(SGCD):c.383-20T>C
NM_000337.6(SGCD):c.383-7C>T rs1485320081
NM_000337.6(SGCD):c.383-9A>C
NM_000337.6(SGCD):c.383-9A>G
NM_000337.6(SGCD):c.383-9A>T rs995515938
NM_000337.6(SGCD):c.383-9_383-8del
NM_000337.6(SGCD):c.384T>C (p.Gly128=)
NM_000337.6(SGCD):c.390A>G (p.Lys130=)
NM_000337.6(SGCD):c.4-11G>A
NM_000337.6(SGCD):c.4-11G>T rs754124727
NM_000337.6(SGCD):c.4-14C>T
NM_000337.6(SGCD):c.405T>C (p.Tyr135=)
NM_000337.6(SGCD):c.414A>G (p.Lys138=)
NM_000337.6(SGCD):c.435T>G (p.Ser145=)
NM_000337.6(SGCD):c.447C>T (p.Leu149=)
NM_000337.6(SGCD):c.465T>C (p.Asn155=)
NM_000337.6(SGCD):c.468A>G (p.Glu156=)
NM_000337.6(SGCD):c.471G>A (p.Val157=)
NM_000337.6(SGCD):c.477A>G (p.Val159=)
NM_000337.6(SGCD):c.483T>A (p.Ala161=)
NM_000337.6(SGCD):c.48C>T (p.Gly16=)
NM_000337.6(SGCD):c.501A>G (p.Leu167=) rs1760873767
NM_000337.6(SGCD):c.502+11T>G
NM_000337.6(SGCD):c.502+12T>A
NM_000337.6(SGCD):c.502+12T>C
NM_000337.6(SGCD):c.502+13G>A
NM_000337.6(SGCD):c.502+13G>C
NM_000337.6(SGCD):c.502+15A>G
NM_000337.6(SGCD):c.502+17_502+19del
NM_000337.6(SGCD):c.502+18A>C
NM_000337.6(SGCD):c.502+19T>A
NM_000337.6(SGCD):c.502+19T>C
NM_000337.6(SGCD):c.503-13G>C
NM_000337.6(SGCD):c.503-13G>T
NM_000337.6(SGCD):c.503-18T>C rs2113585173
NM_000337.6(SGCD):c.503-19T>A rs940013005
NM_000337.6(SGCD):c.503-20C>T
NM_000337.6(SGCD):c.507G>T (p.Ala169=) rs10071079
NM_000337.6(SGCD):c.516A>C (p.Thr172=)
NM_000337.6(SGCD):c.51T>C (p.Ser17=)
NM_000337.6(SGCD):c.531T>C (p.Ser177=)
NM_000337.6(SGCD):c.540A>G (p.Thr180=)
NM_000337.6(SGCD):c.546T>C (p.Asn182=)
NM_000337.6(SGCD):c.54G>T (p.Val18=) rs756970013
NM_000337.6(SGCD):c.567A>G (p.Lys189=)
NM_000337.6(SGCD):c.571C>T (p.Leu191=)
NM_000337.6(SGCD):c.573A>G (p.Leu191=) rs780862246
NM_000337.6(SGCD):c.575+10T>G rs1581326695
NM_000337.6(SGCD):c.575+12A>C
NM_000337.6(SGCD):c.575+14T>C
NM_000337.6(SGCD):c.575+15T>G
NM_000337.6(SGCD):c.575+16T>C
NM_000337.6(SGCD):c.576-11G>A rs1305012762
NM_000337.6(SGCD):c.576-11G>T
NM_000337.6(SGCD):c.576-11del
NM_000337.6(SGCD):c.576-12G>A
NM_000337.6(SGCD):c.576-15T>C rs918017706
NM_000337.6(SGCD):c.576-19G>A
NM_000337.6(SGCD):c.576-20C>G
NM_000337.6(SGCD):c.576-5T>C rs1757386242
NM_000337.6(SGCD):c.576-7T>G rs2113176805
NM_000337.6(SGCD):c.579G>A (p.Leu193=)
NM_000337.6(SGCD):c.57G>T (p.Gly19=)
NM_000337.6(SGCD):c.588A>G (p.Pro196=)
NM_000337.6(SGCD):c.591C>T (p.Thr197=) rs1469091652
NM_000337.6(SGCD):c.594G>T (p.Arg198=) rs754875886
NM_000337.6(SGCD):c.621A>C (p.Gly207=)
NM_000337.6(SGCD):c.669A>G (p.Thr223=)
NM_000337.6(SGCD):c.66A>G (p.Val22=) rs900010728
NM_000337.6(SGCD):c.681G>A (p.Leu227=) rs2113178131
NM_000337.6(SGCD):c.687C>T (p.Ser229=) rs1166804343
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000337.6(SGCD):c.699+15G>A rs1440648894
NM_000337.6(SGCD):c.699+16G>A
NM_000337.6(SGCD):c.699+16G>T
NM_000337.6(SGCD):c.699+20G>C
NM_000337.6(SGCD):c.699+8del rs1581539353
NM_000337.6(SGCD):c.700-10_700-9del
NM_000337.6(SGCD):c.700-15A>G
NM_000337.6(SGCD):c.700-15A>T
NM_000337.6(SGCD):c.700-16T>C
NM_000337.6(SGCD):c.700-17C>T
NM_000337.6(SGCD):c.700-20T>C
NM_000337.6(SGCD):c.700-20T>G rs775624358
NM_000337.6(SGCD):c.700-6_700-3dup
NM_000337.6(SGCD):c.700-8G>A
NM_000337.6(SGCD):c.700-8_700-5dup rs2113185833
NM_000337.6(SGCD):c.708A>G (p.Leu236=) rs761623268
NM_000337.6(SGCD):c.714T>C (p.Ala238=) rs1554137275
NM_000337.6(SGCD):c.729A>G (p.Leu243=)
NM_000337.6(SGCD):c.753C>T (p.Tyr251=)
NM_000337.6(SGCD):c.762A>G (p.Thr254=)
NM_000337.6(SGCD):c.780C>G (p.Val260=) rs745905613
NM_000337.6(SGCD):c.819G>A (p.Leu273=)
NM_000337.6(SGCD):c.819G>T (p.Leu273=) rs563686455
NM_000337.6(SGCD):c.828A>G (p.Ala276=) rs2113186922
NM_000337.6(SGCD):c.832G>A (p.Ala278Thr) rs753240054
NM_000337.6(SGCD):c.837G>A (p.Gly279=)
NM_000337.6(SGCD):c.846T>C (p.Cys282=) rs2113187047
NM_000337.6(SGCD):c.870C>A (p.Leu290=)
NM_000337.6(SGCD):c.91C>A (p.Arg31=) rs202223676
NM_000337.6(SGCD):c.99A>C (p.Arg33=)
NM_000337.6(SGCD):c.9T>C (p.Pro3=)

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